Inherited myoclonus‐dystonia and epilepsy: Further evidence of an association?
Identifieur interne : 003C80 ( Main/Exploration ); précédent : 003C79; suivant : 003C81Inherited myoclonus‐dystonia and epilepsy: Further evidence of an association?
Auteurs : Sean O'Riordan [Irlande (pays)] ; Laurie J. Ozelius [États-Unis] ; Patricia De Carvalho Aguiar [États-Unis] ; Michael Hutchinson [Irlande (pays)] ; Mary King [Irlande (pays)] ; Tim Lynch [Irlande (pays)]Source :
- Movement Disorders [ 0885-3185 ] ; 2004-12.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adolescent, Adult, Child, Chromatography, Gas, Codon, Nonsense (genetics), Dystonia, Dystonia (complications), Dystonia (genetics), Electroencephalography, Epilepsy, Epilepsy (complications), Epilepsy (diagnosis), Epilepsy (genetics), Exons (genetics), Female, Gene Expression, Humans, Male, Motor control, Myoclonus, Myoclonus (complications), Myoclonus (genetics), Nervous system diseases, Pedigree, Phenotype, Sarcoglycans (genetics), epilepsy, inherited, myoclonus‐dystonia, ϵ‐sarcoglycan.
- MESH :
- chemical , genetics : Codon, Nonsense, Sarcoglycans.
- complications : Dystonia, Epilepsy, Myoclonus.
- diagnosis : Epilepsy.
- genetics : Dystonia, Epilepsy, Exons, Myoclonus.
- Adolescent, Adult, Child, Chromatography, Gas, Electroencephalography, Female, Gene Expression, Humans, Male, Pedigree, Phenotype.
Abstract
Epilepsy and electroencephalogram (EEG) abnormalities have been considered exclusion criteria for the clinical diagnosis of myoclonus‐dystonia (M‐D). We report on the second M‐D family in which several clinically affected ϵ‐sarcoglycan gene (SGCE) mutation carriers have seizures in addition to myoclonus and dystonia, adding to the evidence that epilepsy and EEG abnormalities may form part of the phenotypic spectrum of the condition. A nonsense mutation in exon 3 (289C→T) of SGCE resulting in the insertion of a premature stop codon (R97X) was detected in affected members of this family. © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.20224
Affiliations:
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Le document en format XML
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Ozelius</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular Genetics, Albert Einstein College of Medicine, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="De Carvalho Aguiar, Patricia" sort="De Carvalho Aguiar, Patricia" uniqKey="De Carvalho Aguiar P" first="Patricia" last="De Carvalho Aguiar">Patricia De Carvalho Aguiar</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular Genetics, Albert Einstein College of Medicine, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name><affiliation wicri:level="1"><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Departments of Neurology, St. Vincent's University Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="King, Mary" sort="King, Mary" uniqKey="King M" first="Mary" last="King">Mary King</name><affiliation wicri:level="1"><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Temple Street Children's Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name><affiliation wicri:level="1"><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Mater Misericordiae Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2004-12">2004-12</date><biblScope unit="vol">19</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="1456">1456</biblScope><biblScope unit="page" to="1459">1459</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">9D1C90ED821CC0BD7B937CB3408707305ED47652</idno><idno type="DOI">10.1002/mds.20224</idno><idno type="ArticleID">MDS20224</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Chromatography, Gas</term><term>Codon, Nonsense (genetics)</term><term>Dystonia</term><term>Dystonia (complications)</term><term>Dystonia (genetics)</term><term>Electroencephalography</term><term>Epilepsy</term><term>Epilepsy (complications)</term><term>Epilepsy (diagnosis)</term><term>Epilepsy (genetics)</term><term>Exons (genetics)</term><term>Female</term><term>Gene Expression</term><term>Humans</term><term>Male</term><term>Motor control</term><term>Myoclonus</term><term>Myoclonus (complications)</term><term>Myoclonus (genetics)</term><term>Nervous system diseases</term><term>Pedigree</term><term>Phenotype</term><term>Sarcoglycans (genetics)</term><term>epilepsy</term><term>inherited</term><term>myoclonus‐dystonia</term><term>ϵ‐sarcoglycan</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Codon, Nonsense</term><term>Sarcoglycans</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonia</term><term>Epilepsy</term><term>Myoclonus</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Epilepsy</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term><term>Epilepsy</term><term>Exons</term><term>Myoclonus</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Chromatography, Gas</term><term>Electroencephalography</term><term>Female</term><term>Gene Expression</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Phenotype</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Contrôle moteur</term><term>Dystonie</term><term>Epilepsie</term><term>Myoclonie</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Epilepsy and electroencephalogram (EEG) abnormalities have been considered exclusion criteria for the clinical diagnosis of myoclonus‐dystonia (M‐D). We report on the second M‐D family in which several clinically affected ϵ‐sarcoglycan gene (SGCE) mutation carriers have seizures in addition to myoclonus and dystonia, adding to the evidence that epilepsy and EEG abnormalities may form part of the phenotypic spectrum of the condition. A nonsense mutation in exon 3 (289C→T) of SGCE resulting in the insertion of a premature stop codon (R97X) was detected in affected members of this family. © 2004 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Irlande (pays)</li><li>États-Unis</li></country><region><li>État de New York</li></region></list><tree><country name="Irlande (pays)"><noRegion><name sortKey="O Riordan, Sean" sort="O Riordan, Sean" uniqKey="O Riordan S" first="Sean" last="O'Riordan">Sean O'Riordan</name></noRegion><name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name><name sortKey="King, Mary" sort="King, Mary" uniqKey="King M" first="Mary" last="King">Mary King</name><name sortKey="Lynch, Tim" sort="Lynch, Tim" uniqKey="Lynch T" first="Tim" last="Lynch">Tim Lynch</name></country><country name="États-Unis"><region name="État de New York"><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name></region><name sortKey="De Carvalho Aguiar, Patricia" sort="De Carvalho Aguiar, Patricia" uniqKey="De Carvalho Aguiar P" first="Patricia" last="De Carvalho Aguiar">Patricia De Carvalho Aguiar</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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